ClinVar for Gene (Select 118461) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2684603	GRCh37/hg19 10q11.22-11.23(chr10:48349961-51817663)x3	AGAP6, ARHGAP22 +25 more	Copy number gain	not provided	GUncertain significance
Select item 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	GPathogenic
Select item 2663790	NC_000010.10:g.(?_49383876)_(52383915_?)del	AGAP6, ARHGAP22 +22 more	Deletion	Cockayne syndrome type 2	GPathogenic
Select item 2580332	GRCh37/hg19 10q11.22-11.23(chr10:46284269-51870080)x1	AGAP10, AGAP4 +37 more	Copy number loss	See cases	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	MTG1, NPS +679 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	A1CF, ABCC2 +670 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2498203	NC_000010.11:g.45704708_(49974954_50015268)del	AGAP4, AGAP6 +122 more	Deletion	10q11.22q11.23 deletion syndrome	GLikely pathogenic
Select item 2404877	NM_001135196.2(C10orf71):c.104G>A (p.Arg35Gln)	C10orf71 (R35Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2392256	NM_001135196.2(C10orf71):c.2512G>T (p.Ala838Ser)	C10orf71 (A838S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2375414	NM_001135196.2(C10orf71):c.3392C>A (p.Ala1131Glu)	C10orf71 (A1131E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2371949	NM_001135196.2(C10orf71):c.353C>G (p.Pro118Arg)	C10orf71 (P118R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2366358	NM_001135196.2(C10orf71):c.31G>A (p.Ala11Thr)	C10orf71 (A11T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2362669	NM_001135196.2(C10orf71):c.2017T>C (p.Ser673Pro)	C10orf71 (S673P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2361710	NM_001135196.2(C10orf71):c.287C>T (p.Ala96Val)	C10orf71 (A96V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2349336	NM_001135196.2(C10orf71):c.2777G>A (p.Arg926His)	C10orf71 (R926H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2288357	NM_001135196.2(C10orf71):c.3175C>A (p.Pro1059Thr)	C10orf71 (P1059T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2254056	NM_001135196.2(C10orf71):c.3398A>G (p.Asp1133Gly)	C10orf71 (D1133G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2252781	NM_001135196.2(C10orf71):c.1501T>A (p.Phe501Ile)	C10orf71 (F501I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2249818	NM_001135196.2(C10orf71):c.1319C>G (p.Pro440Arg)	C10orf71 (P440R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2233977	NM_001135196.2(C10orf71):c.3970C>T (p.Pro1324Ser)	C10orf71 (P1324S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2221820	NM_001135196.2(C10orf71):c.3116C>A (p.Pro1039His)	C10orf71 (P1039H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1879150	GRCh37/hg19 10q11.22-11.23(chr10:46584432-51974628)x3	ANXA8L1, AGAP9 +35 more	Copy number gain	not provided	GUncertain significance
Select item 1808699	GRCh37/hg19 10q11.22-11.23(chr10:46269493-51874356)x1	AGAP10, AGAP4 +37 more	Copy number loss	not provided	GLikely pathogenic
Select item 1808685	GRCh37/hg19 10q11.22-11.23(chr10:46966534-51700837)x1	AGAP10, AGAP9 +32 more	Copy number loss	not provided	GLikely pathogenic
Select item 1807813	GRCh37/hg19 10q11.22-11.23(chr10:48252675-51861565)x1	AGAP6, ANXA8 +27 more	Copy number loss	not provided	GLikely pathogenic
Select item 1807739	GRCh37/hg19 10q11.22-11.23(chr10:46966534-51903756)x3	PGBD3, PTPN20 +34 more	Copy number gain	not provided	GUncertain significance
Select item 1711870	GRCh37/hg19 10q11.22-11.23(chr10:46287821-51627470)x1	AGAP10, AGAP4 +35 more	Copy number loss	See cases	GPathogenic
Select item 1707432	GRCh37/hg19 10q11.22-11.23(chr10:49378356-52467181)x1	ASAH2, AGAP6 +22 more	Copy number loss	See cases	GPathogenic
Select item 1703569	GRCh37/hg19 10q11.22-11.23(chr10:46576515-51680164)	AGAP10, AGAP9 +32 more	Copy number loss	Telangiectasia, hereditary hemorrhagic, type 5	GPathogenic
Select item 1340263	GRCh37/hg19 10q11.22-11.23(chr10:49378357-51134640)x1	ARHGAP22, C10orf53 +15 more	Copy number loss	not provided	GUncertain significance
Select item 1260207	NM_001135196.2(C10orf71):c.1382A>C (p.Asp461Ala)	C10orf71 (D461A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1253111	NM_001135196.2(C10orf71):c.959G>T (p.Arg320Leu)	C10orf71 (R320L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1232423	NM_001135196.2(C10orf71):c.1016C>A (p.Ala339Glu)	C10orf71 (A339E)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1231417	NM_001135196.2(C10orf71):c.1014T>C (p.Leu338=)	C10orf71	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1180522	GRCh37/hg19 10q11.22-11.23(chr10:48301535-51807296)x3	AGAP6, ARHGAP22 +25 more	Copy number gain	not provided	GPathogenic
Select item 992645	GRCh37/hg19 10q11.22-11.23(chr10:46966535-51874356)x1	AGAP10, AGAP6 +34 more	Copy number loss	not provided	GLikely pathogenic
Select item 988905	GRCh37/hg19 10q11.22-11.23(chr10:49391938-51053159)x3	C10orf71, CHAT +15 more	Copy number gain	not provided	GUncertain significance
Select item 980916	GRCh37/hg19 10q11.22-11.23(chr10:48750425-51386904)x1	ARHGAP22, C10orf53 +17 more	Copy number loss	not provided	GUncertain significance
Select item 980915	GRCh37/hg19 10q11.22-11.23(chr10:49378356-51134640)x3	ARHGAP22, C10orf53 +15 more	Copy number gain	not provided	GLikely pathogenic
Select item 980914	GRCh37/hg19 10q11.22-11.23(chr10:47132305-51627470)x1	AGAP10, AGAP9 +29 more	Copy number loss	not provided	GLikely pathogenic
Select item 977791	GRCh37/hg19 10q11.22-11.23(chr10:46964973-51826226)	SLC18A3, SYT15 +33 more	Copy number loss	10q11.22q11.23 microdeletion including CHAT and SLC18A3	GPathogenic
Select item 974738	NC_000010.10:g.49033586_52417694del	TMEM273, WDFY4 +23 more	Deletion	Megacolon	GLikely pathogenic
Select item 973065	GRCh37/hg19 10q11.22-11.23(chr10:46321318-51595050)x1	AGAP10, AGAP4 +33 more	Copy number loss	not provided	Gnot provided
Select item 815343	GRCh37/hg19 10q11.23(chr10:50427103-50638979)x3	DRGX, C10orf71	Copy number gain	not provided	GUncertain significance
Select item 815342	GRCh37/hg19 10q11.23-21.3(chr10:50250603-69256083)x1	TIMM23, C10orf71 +50 more	Copy number loss	not provided	GPathogenic
Select item 815341	GRCh37/hg19 10q11.22-11.23(chr10:49389565-51122608)x1	VSTM4, CHAT +15 more	Copy number loss	not provided	GUncertain significance
Select item 779145	NM_001135196.2(C10orf71):c.1317C>T (p.Pro439=)	C10orf71	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 779144	NM_001135196.2(C10orf71):c.633G>T (p.Gln211His)	C10orf71 (Q211H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 778387	NM_001135196.2(C10orf71):c.1565T>G (p.Val522Gly)	C10orf71 (V522G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 689042	GRCh37/hg19 10q11.22-11.23(chr10:48106368-51250418)x1	AGAP9, ANXA8 +24 more	Copy number loss	not provided	GPathogenic
Select item 688266	GRCh37/hg19 10q11.22-11.23(chr10:46287086-51830366)x3	AGAP10, AGAP4 +37 more	Copy number gain	not provided	GUncertain significance
Select item 687599	GRCh37/hg19 10q11.22-11.23(chr10:48252674-51830366)x3	AGAP6, ANXA8 +27 more	Copy number gain	not provided	GUncertain significance
Select item 687117	GRCh37/hg19 10q11.22-11.23(chr10:46966533-51850064)x3	AGAP10, AGAP6 +34 more	Copy number gain	not provided	GUncertain significance
Select item 686422	GRCh37/hg19 10q11.22-11.23(chr10:46235357-51874163)x1	AGAP10, AGAP4 +37 more	Copy number loss	not provided	GPathogenic
Select item 686364	GRCh37/hg19 10q11.22-11.23(chr10:46966533-51903755)x1	AGAP10, AGAP6 +34 more	Copy number loss	not provided	GPathogenic
Select item 686014	GRCh37/hg19 10q11.22-11.23(chr10:49378356-52467181)x3	AGAP6, ARHGAP22 +22 more	Copy number gain	not provided	GUncertain significance
Select item 685237	GRCh37/hg19 10q11.22-11.23(chr10:47148813-51626260)x3	AGAP10, AGAP9 +29 more	Copy number gain	not provided	GPathogenic
Select item 684951	GRCh37/hg19 10q11.22-11.23(chr10:49378356-51250418)x1	ARHGAP22, C10orf53 +15 more	Copy number loss	not provided	GPathogenic
Select item 625649	GRCh37/hg19 10q11.22-11.23(chr10:46544810-51743471)	AGAP10, AGAP9 +32 more	Copy number loss	not provided	GPathogenic
Select item 625591	GRCh37/hg19 10q11.22-11.23(chr10:48102606-50641752)	AGAP9, ANXA8 +17 more	Copy number loss	not provided	GPathogenic
Select item 624468	GRCh37/hg19 10q11.22-21.1(chr10:49390457-60061643)x1	MSMB, MTRNR2L5 +33 more	Copy number loss	not provided	GLikely pathogenic
Select item 563792	GRCh37/hg19 10q11.22-11.23(chr10:46225364-51874356)x1	NPY4R, OGDHL +37 more	Copy number loss	not provided	GLikely pathogenic
Select item 563791	GRCh37/hg19 10q11.22-11.23(chr10:46287821-51861565)x1	AGAP10, AGAP4 +37 more	Copy number loss	not provided	GPathogenic
Select item 563790	GRCh37/hg19 10q11.22-11.23(chr10:46966533-51903755)x1	AGAP10, AGAP6 +34 more	Copy number loss	not provided	GPathogenic
Select item 563789	GRCh37/hg19 10q11.22-11.23(chr10:46966533-51874356)x1	NCOA4, NPY4R +34 more	Copy number loss	not provided	GLikely pathogenic
Select item 563788	GRCh37/hg19 10q11.22-11.23(chr10:46966533-51822386)x3	AGAP10, AGAP6 +33 more	Copy number gain	not provided	GLikely pathogenic
Select item 563787	GRCh37/hg19 10q11.22-11.23(chr10:46966533-51700837)x1	AGAP10, AGAP9 +32 more	Copy number loss	not provided	GPathogenic
Select item 563777	GRCh37/hg19 10q11.22-11.23(chr10:49378356-51113033)x3	PARG, OGDHL +15 more	Copy number gain	not provided	GUncertain significance
Select item 545135	Single allele	LOC130003791, LOC130003792 +109 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 495230	NC_000010.10:g.43611191_61663279inv	CCDC6, ZNF32 +75 more	Inversion	Pediatric metastatic thyroid tumour	GLikely pathogenic
Select item 443526	GRCh37/hg19 10q11.22-11.23(chr10:49378357-51134640)x1	ARHGAP22, C10orf53 +15 more	Copy number loss	See cases	GUncertain significance
Select item 443260	GRCh37/hg19 10p15.3-q11.23(chr10:100026-50961640)x3	ABI1, ACBD5 +205 more	Copy number gain	See cases	GPathogenic
Select item 443095	GRCh37/hg19 10q11.22-11.23(chr10:46966534-51848637)x3	AGAP10, AGAP6 +34 more	Copy number gain	See cases	GUncertain significance
Select item 442337	GRCh37/hg19 10q11.22-11.23(chr10:49381707-52467180)x3	AGAP6, ARHGAP22 +22 more	Copy number gain	See cases	GUncertain significance
Select item 442310	GRCh37/hg19 10q11.22-11.23(chr10:46966533-51903756)x1	AGAP10, AGAP6 +34 more	Copy number loss	See cases	GLikely pathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	NFKB2, NHLRC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 441949	GRCh37/hg19 10q11.22-11.23(chr10:46966534-51903756)x1	AGAP10, AGAP6 +34 more	Copy number loss	See cases	GLikely pathogenic
Select item 441891	GRCh37/hg19 10q11.22-11.23(chr10:46966534-51822386)x1	AGAP10, AGAP6 +33 more	Copy number loss	See cases	GLikely pathogenic
Select item 441790	GRCh37/hg19 10q11.22-11.23(chr10:46966534-51891907)x3	AGAP10, AGAP6 +34 more	Copy number gain	See cases	GUncertain significance
Select item 394957	GRCh37/hg19 10q11.22-11.23(chr10:49392896-52372011)x3	AGAP6, ARHGAP22 +22 more	Copy number gain	See cases	GLikely pathogenic
Select item 394170	GRCh37/hg19 10q11.22-11.23(chr10:46224446-51594991)x1	AGAP10, AGAP4 +35 more	Copy number loss	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ANXA8L1 +723 more	Copy number gain	See cases	GPathogenic
Select item 253661	GRCh37/hg19 10q11.22-11.23(chr10:46491169-51081560)x1	AGAP10, AGAP9 +29 more	Copy number loss	See cases	GPathogenic
Select item 253563	GRCh37/hg19 10q11.22-11.23(chr10:46242057-51595050)x3	AGAP10, AGAP4 +35 more	Copy number gain	See cases	GPathogenic
Select item 154900	GRCh38/hg38 10q11.21-21.3(chr10:42112187-67400675)x3	A1CF, ADO +561 more	Copy number gain	See cases	GPathogenic
Select item 154709	GRCh38/hg38 10q11.22-11.23(chr10:45710242-49929364)x1	AGAP10, AGAP4 +118 more	Copy number loss	See cases	GPathogenic
Select item 154220	GRCh38/hg38 10q11.22-11.23(chr10:45931517-50035809)x3	AGAP10, AGAP6 +119 more	Copy number gain	See cases	GUncertain significance
Select item 151967	GRCh38/hg38 10q11.22-11.23(chr10:45788078-50066466)x1	AGAP10, AGAP4 +122 more	Copy number loss	See cases	GUncertain significance
Select item 150503	GRCh38/hg38 10q11.22-11.23(chr10:45999930-49937908)x1	AGAP9, ANTXRL +112 more	Copy number loss	See cases	GLikely pathogenic
Select item 150121	GRCh38/hg38 10q11.22-11.23(chr10:45931517-49929364)x1	AGAP10, AGAP9 +114 more	Copy number loss	See cases	GLikely pathogenic
Select item 149971	GRCh38/hg38 10q11.22-11.23(chr10:45931517-49929364)x1	AGAP9, ANTXRL +113 more	Copy number loss	See cases	GLikely pathogenic
Select item 148682	GRCh38/hg38 10q11.22-11.23(chr10:45810008-50066466)x1	AGAP10, AGAP4 +121 more	Copy number loss	See cases	GLikely pathogenic
Select item 148406	GRCh38/hg38 10q11.22-11.23(chr10:48084228-49929364)x3	ARHGAP22, ARHGAP22-IT1 +65 more	Copy number gain	See cases	GUncertain significance
Select item 147898	GRCh38/hg38 10q11.23(chr10:49109413-49618870)x1	C10orf71, C10orf71-AS1 +24 more	Copy number loss	See cases	GUncertain significance
Select item 146781	GRCh38/hg38 10q11.22-11.23(chr10:45710248-50021141)x1	AGAP10, AGAP4 +123 more	Copy number loss	See cases	GPathogenic
Select item 145481	GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3	A1CF, ADAMTS14 +902 more	Copy number gain	See cases	GPathogenic
Select item 145479	GRCh38/hg38 10q11.21-11.23(chr10:42395201-50877059)x3	A1CF, AGAP10 +309 more	Copy number gain	See cases	GPathogenic
Select item 144985	GRCh38/hg38 10q11.22-11.23(chr10:45931517-49929364)x1	AGAP10, AGAP9 +114 more	Copy number loss	See cases	GPathogenic

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